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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10721: Variant p.Phe584Leu

Mast/stem cell growth factor receptor Kit
Gene: KIT
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Variant information Variant position: help 584 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Phenylalanine (F) to Leucine (L) at position 584 (F584L, p.Phe584Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In PBT. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 584 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 976 The length of the canonical sequence.
Location on the sequence: help NGNNYVYIDPTQLPYDHKWE F PRNRLSFGKTLGAGAFGKVV The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVV

                              NGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVV

Mouse                         NGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVV

Pig                           NGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVV

Bovine                        NGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVV

Goat                          NGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVV

Cat                           NGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVV

Chicken                       NGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVV

Xenopus laevis                NGNNYVYIDPTQLPYDNKWEFPRDRLCFGKILGAGAFGKVV
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 26 – 976 Mast/stem cell growth factor receptor Kit
Topological domain 546 – 976 Cytoplasmic
Binding site 568 – 568
Modified residue 568 – 568 Phosphotyrosine; by autocatalysis
Modified residue 570 – 570 Phosphotyrosine; by autocatalysis
Alternative sequence 1 – 744 MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTDPGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLVDRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFIPDPKAGIMIKSVKRAYHRLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSSSVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSANVTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWEDYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDRLVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVDVQTLNSSGPPFGKLVVQSSIDSSAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGACTIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNEYMDMKPGVSYVVPTKADKRRSVRI -> MSLPLSFPFLTFMVVIAKKNPLFLT. In isoform 3.
Mutagenesis 571 – 571 I -> A. Reduction in SH2B2/APS binding. Abolishes SH2B2/APS binding; when associated with A-939.



Literature citations
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
Spritz R.A.; Giebel L.B.; Holmes S.A.;
Am. J. Hum. Genet. 50:261-269(1992)
Cited for: VARIANT PBT LEU-584;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.